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Autosomal dominant retinitis pigmentosa mutations in inosine 5′-monophosphate dehydrogenase type I disrupt nucleic acid binding
Two mutations of IMPDH1 (inosine 5′-monophosphate dehydrogenase type I), R224P and D226N, have recently been found to cause adRP (autosomal dominant retinitis pigmentosa). IMPDH1 catalyses the rate-limiting step in guanine nucleotide biosynthesis and also binds single-stranded nucleic acids. In the...
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| Autors principals: | , |
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| Format: | Article |
| Idioma: | English |
| Publicat: |
Portland Press Ltd.
2005
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1184561/ https://ncbi.nlm.nih.gov/pubmed/15882147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20042051 |
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